PSY 223 1st Edition Lecture 6Genetic abnormalities- Dominant- gene disorders (Huntington)- Recessive- gene disorders (sickle cell, Tay Sachs) - PKU-o Inherited disordero Recessiveo Lack an enzyme (phenylalanine hydroxylase)o Controlled by diet- body can't handle certain protein and it causes mental impairment o If issue is not caught in time- causes seizures, delayed skillso Anything high in protein must be modified o Diet must be strictly followedDown syndrome- Trisomy 21- Chromosomal abnormality - that appears to occur spontaneously- Error in cell division- Women at 35 are at higher risk for having Down Syndrome baby Dispelling myths:- Average life expectancy is 55 years old- Most DS children are born to women under 35- Most people with Down syndrome are severely retarded- Adults with Down syndrome are definitely employable- Down syndrome can never be cured Features of Down Syndrome: flattened nose and face, different muscle tone (lacking), usually cognitive disability, upward slanting eyes, widely separated first and second toe. Abnormal development in neck and head area hints at DS during screening and tests- Outcomes depend on severity of impairment- Early intervention recommended: speech, physical, occupationalFragile X- Change/mutation in gene X on X chromosome- Most common cause of inherited mental impairment - Most common known cause of autism- Two many repetitions that is important for the protein that's involved in brain development*Females are carriers but males are affected*Males are usually more affected than females- Features of Fragile X: broad forehead, elongated face, crossed eyes, highly arched palate, hyper extensible joints, enlarged testicles, soft skin, flat feet, seizures in some cases- Treatments: currently, there is no cure but there is education and medication depending on what issues arise- Carrier men passes it to all daughters- Carrier women give their daughters a 50/50 chance of getting it- It can be passed down silently as well, meaning that carriers don't show signsof itAutism Spectrum Disorders- Continuum of disability- Autistic disorder- Pervasive developmental disorders not otherwise specified - Asperger's syndrome- main difference from a person who is the typical autistic person, they are very high functioning and very smart academically, usually specialized, sometimes anxious or very specific about certain things, they are easily overwhelmed by various stimuli, trouble understanding social cues and sarcasm, they tend to want to engage with others, super drawn into their own thought processes and block out noise sometimes- Causes of autism- No known single cause- Hereditary- Genetic basis- Environmental triggers: infections, exposure to toxins or chemicals, low levels of folic acid to help develop the neural tube, some medications, lead, pesticides, insecticides, mothers who consumes lot of sugary drinks have had a correlation- A baby who is not saying anything by 16th month is a risk factor for Autism- By two years of age, baby should be speaking - Study shows that autism development has to do with the 19th-30 weeksduring pre-natal development where the neurons aren't organizing and developing the way they should has Autism characteristics:- Brain abnormalities- Communication impairment- receptive, expressive- Social impairment-Joint attention, Social cues, Interaction- Unusual behaviors or movementsAutism treatments:- Early intervention- Behavioral therapy-rewarding them for being open to new things- Speech therapy- Occupational therapy- Medication- depending on issues experienced (ex. Adderall for attention